PhenoDigm

Model organisms represent a valuable resource for the characterisation as well as identification of disease-gene associations, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. To systematically apply this methodology, PhenoDigm uses a semantic approach to map between clinical features observed in humans and mouse and zebrafish phenotype annotations.模式生物（Model organisms）是表征与鉴定疾病-基因关联的宝贵资源，尤其适用于分子机制尚未明确，且候选基因的功能、通路参与情况或表达模式均无相关线索的研究场景。为系统性应用该方法，PhenoDigm采用语义方法，将人类观测到的临床特征与小鼠、斑马鱼的表型注释（phenotype annotations）进行映射关联。

搜集汇总

背景与挑战

背景概述

PhenoDigm是一个基于表型信息优先排序疾病基因候选者的算法。它采用语义方法将人类临床特征映射到小鼠和斑马鱼的表型注释，并整合OWLSim机制来对齐本体描述和计算相似性度量。